{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T06:34:21Z","timestamp":1775025261170,"version":"3.50.1"},"reference-count":18,"publisher":"Massachusetts Medical Society","issue":"16","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["N Engl J Med"],"published-print":{"date-parts":[[2001,10,18]]},"DOI":"10.1056\/nejm200110183451611","type":"journal-article","created":{"date-parts":[[2002,7,27]],"date-time":"2002-07-27T12:57:19Z","timestamp":1027774639000},"page":"1203-1205","source":"Crossref","is-referenced-by-count":7,"title":["An Exception to the Rule"],"prefix":"10.1056","volume":"345","author":[{"given":"Peter H.","family":"Byers","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"150","reference":[{"key":"r001","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM197205112861901"},{"key":"r002","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19980428)77:1<31::AID-AJMG8>3.0.CO;2-O"},{"key":"r003","unstructured":"Byers PH. Disorders of collagen biosynthesis and structure. In: Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The metabolic and molecular bases of inherited disease. 8th ed. Vol. 4. New York: McGraw-Hill, 2001:5241-85."},{"key":"r004","doi-asserted-by":"publisher","DOI":"10.3109\/07853890109002055"},{"key":"r005","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971003)72:1<94::AID-AJMG20>3.0.CO;2-O"},{"key":"r006","doi-asserted-by":"crossref","first-page":"225","DOI":"10.2106\/00004623-199902000-00010","volume":"81","author":"Giunta C","year":"1999","journal-title":"J Bone Joint Surg Am"},{"key":"r007","first-page":"547","volume":"60","author":"De Paepe A","year":"1997","journal-title":"Am J Hum Genet"},{"key":"r008","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.35.10.846"},{"key":"r009","doi-asserted-by":"publisher","DOI":"10.1086\/302933"},{"key":"r010","first-page":"A498","volume":"65","author":"Wenstrup RJ","year":"1999","journal-title":"Am J Hum Genet"},{"key":"r011","first-page":"283","volume":"67","author":"Giunta C","year":"2000","journal-title":"Am J Hum Genet"},{"key":"r012","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM200003093421001"},{"key":"r013","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa002939"},{"key":"r014","doi-asserted-by":"publisher","DOI":"10.1038\/ng0997-104"},{"key":"r016","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/8.10.1893"},{"key":"r017","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(01)00202-1"},{"key":"r018","doi-asserted-by":"publisher","DOI":"10.1016\/0945-053X(94)90196-1"},{"key":"L1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa002939"}],"container-title":["New England Journal of Medicine"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nejm.org\/doi\/pdf\/10.1056\/NEJM200110183451611","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,6,15]],"date-time":"2017-06-15T10:48:51Z","timestamp":1497523731000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.nejm.org\/doi\/abs\/10.1056\/NEJM200110183451611"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,10,18]]},"references-count":18,"journal-issue":{"issue":"16","published-print":{"date-parts":[[2001,10,18]]}},"alternative-id":["10.1056\/NEJM200110183451611"],"URL":"https:\/\/doi.org\/10.1056\/nejm200110183451611","relation":{},"ISSN":["0028-4793","1533-4406"],"issn-type":[{"value":"0028-4793","type":"print"},{"value":"1533-4406","type":"electronic"}],"subject":[],"published":{"date-parts":[[2001,10,18]]}}}